mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

Home

Download

 Statistics

Help

About Us

Bioinformatics and Systems Medicine Laboratory Bioinformatics and Systems Medicine Laboratory

Gene Summary

Ligand Binding Site Mutation Information

Protein Structure Related Information

Gene Expression and Gene-Gene Network

Phenotype Information

Pharmacological Information

Conservation Information for LBS

Gene summary for ACBD4
Gene summary
Basic gene Info.Gene symbolACBD4
Gene nameacyl-CoA binding domain containing 4
Synonyms-
CytomapUCSC genome browser: 17q21.31
Type of geneprotein-coding
RefGenesNM_001135704.1,
NM_001135705.1,NM_001135706.1,NM_001135707.1,NM_024722.2,
Descriptionacyl-CoA-binding domain-containing protein 4acyl-Coenzyme A binding domain containing 4
Modification date20141207
dbXrefs HGNC : HGNC
Ensembl : ENSG00000181513
Vega : OTTHUMG00000180111
ProteinUniProt: Q8NC06
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_ACBD4
BioGPS: 79777
PathwayNCI Pathway Interaction Database: ACBD4
KEGG: ACBD4
REACTOME: ACBD4
Pathway Commons: ACBD4
ContextiHOP: ACBD4
ligand binding site mutation search in PubMed: ACBD4
UCL Cancer Institute: ACBD4
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID


Top
Ligand binding site mutations for ACBD4
Lollipop-style diagram of mutations at LBS in amino-acid sequence.
We represented ligand binding site mutations only. (You can see big image via clicking.)
 
: non-synonymous mutation on LBS, Circle size denotes number of samples.

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
R58R58WBRCA1
R58R58LLUAD1
Y46Y46CSTAD1
P34,Y32R33CUCEC1
cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma.


Top
Protein structure related information for ACBD4
Relative protein structure stability change (ΔΔE) using Mupro 1.1
Mupro score denotes assessment of the effect of mutations on thermodynamic stability.
  (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability)
: nsSNV at non-LBS: nsSNV at LBS

nsSNVs sorted by the relative stability change of protein structure by each mutation
Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene.
LBSAAchange of nsSNVRelative stability change
R58R58W-1.0307718
Y46Y46C-0.94168457
Y32R33C-0.9338535
P34R33C-0.9338535
R58R58L-0.77897535
(MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132)

Structure image for ACBD4 from PDB

Top
Differential gene expression and gene-gene network for ACBD4
Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types

Differential co-expressed gene network based on protein-protein interaction data (CePIN)
* Left PPI network was created from samples with mutations in the LBS of ACBD4 and the right PPI network was created from samples without mutations in the LBS of ACBD4. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Top

Top
Phenotype information for ACBD4
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

Top
Pharmacological information for ACBD4
Gene expression profile of anticancer drug treated cell-lines (CCLE)
Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient.
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of ACBD4 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS


Top
Conservation information for LBS of ACBD4
Multiple alignments for Q8NC06 in multiple species
LBSAA sequence# speciesSpecies
F42EEMLRFYSYYK3Homo sapiens, Rattus norvegicus, Bos taurus
G30NLPKNGSYRPS3Homo sapiens, Rattus norvegicus, Bos taurus
I100VAQKVIDTVPL3Homo sapiens, Rattus norvegicus, Bos taurus
I23AAVSVIQNLPK3Homo sapiens, Rattus norvegicus, Bos taurus
K28IQNLPKNGSYR3Homo sapiens, Rattus norvegicus, Bos taurus
K47FYSYYKQATMG2Homo sapiens, Bos taurus
K47FYSYYKQATAG1Rattus norvegicus
K69PIGRYKWDAWN2Homo sapiens, Rattus norvegicus
K69PIGRYKWEAWN1Bos taurus
L26SVIQNLPKNGS3Homo sapiens, Rattus norvegicus, Bos taurus
M92AYITEMKLVAQ3Homo sapiens, Rattus norvegicus, Bos taurus
P27VIQNLPKNGSY3Homo sapiens, Rattus norvegicus, Bos taurus
P34NGSYRPSYEEM3Homo sapiens, Rattus norvegicus, Bos taurus
Q24AVSVIQNLPKN3Homo sapiens, Rattus norvegicus, Bos taurus
R58PCLVPRPGFWD2Homo sapiens, Rattus norvegicus
R58PCLIPQPGFWD1Bos taurus
R67WDPIGRYKWDA2Homo sapiens, Rattus norvegicus
R67WDPIGRYKWEA1Bos taurus
S31LPKNGSYRPSY3Homo sapiens, Rattus norvegicus, Bos taurus
V20QFQAAVSVIQN3Homo sapiens, Rattus norvegicus, Bos taurus
V22QAAVSVIQNLP3Homo sapiens, Rattus norvegicus, Bos taurus
V95TEMKLVAQKVI3Homo sapiens, Rattus norvegicus, Bos taurus
V99LVAQKVIDTVP3Homo sapiens, Rattus norvegicus, Bos taurus
Y32PKNGSYRPSYE3Homo sapiens, Rattus norvegicus, Bos taurus
Y43EMLRFYSYYKQ3Homo sapiens, Rattus norvegicus, Bos taurus
Y46RFYSYYKQATM2Homo sapiens, Bos taurus
Y46RFYSYYKQATA1Rattus norvegicus
Y88EAMSAYITEMK3Homo sapiens, Rattus norvegicus, Bos taurus


Copyright © 2016-Present - The University of Texas Health Science Center at Houston
Site Policies | State of Texas